Pramod K. Mistry, MD, PhD, FRCP
Professor of Medicine, Pediatrics, and Cellular & Molecular Physiology
Director, Metabolic Liver and Lysosomal Disease Program
Yale University School of Medicine
Department of Internal Medicine
Yale New Haven Hospital
New Haven, CT
Raphael Schiffmann, MD, MHSc, FAAN
Director, Institute of Metabolic Disease, Baylor Scott & White Research Institute
Iwona Misiuta, PhD, MHA
Clinical Content Manager
Kathryn Schaefer, MSN, RN, CPHRM
Senior Manager, Accreditation and Compliance
East Lansing, MI
Upon completion, participants should be able to:
- Outline the diagnostic potential of various GD3 biomarkers currently under investigation
- Evaluate recent clinical data on the treatment of GD3
This activity is intended for hematologist/oncologists; pediatricians; medical, translational, molecular, and research geneticists; and other healthcare professionals with an interest in the clinical management of patients with lysosomal disorders.
Statement of Need
GD3 is a subtype of one of the most common lysosomal disorders, GD. Like all subtypes of GD, GD3 is caused by various mutations to the GBA1 gene, which encodes glucocerebrosidase. GD3, also known as chronic neuronopathic GD, is associated with a wide spectrum of visceral and neurologic manifestations. The GD3 phenotype is further divided into 3 subgroups based on the severity of visceral symptoms and cardiac involvement. Determining the genotype variations in GD3 that lead to different phenotypes and disease progression is an area of active research.
Diagnosing GD3 can be challenging as the divisions between the different types of GD are still being identified. Indeed, the manifestations of GD can be described as a phenotypic continuum. Thus, it has become increasingly evident that biomarkers might hold the key to differentiating diagnosis; several biomarkers are under investigation.
Currently, no treatments are specifically approved for GD3; however, mounting evidence suggests that enzyme replacement therapy (ERT) in combination with substrate-reduction therapy (SRT) might be an effective treatment. New therapies specifically for patients with GD3 are under investigation.
Provided by Med-IQ.
Med-IQ is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.
Med-IQ designates this enduring material for a maximum of 0.5 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Nurse practitioners, physician assistants, and other healthcare professionals who successfully complete the activity will receive a Statement of Participation indicating the maximum credits available.
Medium/Method of Participation
This CME activity consists of a 0.5-credit publication. To receive credit, read the introductory CME material, read the publication, and complete the post-survey, evaluation, attestation, and post-test, answering at least 70% of the post-test questions correctly.
Initial Release Date: April 26, 2019
Expiration Date: April 25, 2020
Estimated Time to Complete This Activity: 30 minutes
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The content of this activity has been peer reviewed and has been approved for compliance. The faculty and contributors have indicated the following financial relationships, which have been resolved through an established COI resolution process, and have stated that these reported relationships will not have any impact on their ability to give an unbiased presentation.
Pramod K. Mistry, MD, PhD, FRCP
Consulting fees/advisory boards: Sanofi Genzyme
Fees received for promotional/non-CME activities: Sanofi Genzyme
Contracted research: Sanofi Genzyme
Raphael Schiffmann, MD, MHSc, FAAN
Consulting fees/advisory boards: 4D Pharma, Amicus Therapeutics, Freeline, Prevail Therapeutics, Protalix Biotherapeutics
Contracted research and research support: Amicus Therapeutics, Protalix Biotherapeutics, Sanofi Genzyme, Shire Pharmaceuticals
The peer reviewers and activity planners have no financial relationships to disclose.
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This activity is supported by an educational grant from Sanofi Genzyme.
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